MED17 mediator complex subunit 17

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: MED17
Type: protein-coding
Description: mediator complex subunit 17
Entrez Gene ID: 9440
Genome: hg19
Position: chr11:93,517,448-93,548,129
Genome: hg38
Position: chr11:93,784,282-93,814,963
MIM: 603810 OMIM
HGNC: HGNC:2375 HGNC
Ensembl: ENSG00000042429 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	84
Likely pathogenic	1	46
Benign	0	104
Likely benign	0	704
Conflicting classifications of pathogenicity	0	16
other	1	0
Uncertain significance	0	180

Ranking

	ClinVar
	0
	0
	82
	994
	22

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

Locus Zoom

Variants

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Target data	:	MGeND data only
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

Search Word

Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Search Word

Target data	:	MGeND data only
Category	:
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Filtering	:

Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	CRSP6
SYNONYM	CRSP77
SYNONYM	DRIP80
SYNONYM	SRB4
SYNONYM	TRAP80
MIM	603810 OMIM
HGNC	HGNC:2375 HGNC
Ensembl	ENSG00000042429 Ensembl
AllianceGenome	HGNC:2375

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000639724.1	hg38	chr11	93,784,307	93,812,378	28,072
ENST00000251871.9	hg38	chr11	93,784,282	93,814,963	30,682
ENST00000640521.1	hg38	chr11	93,784,498	93,812,277	27,780
ENST00000251871.9	hg19	chr11	93,517,448	93,548,129	30,682
ENST00000639724.1	hg19	chr11	93,517,473	93,545,544	28,072
ENST00000640521.1	hg19	chr11	93,517,664	93,545,443	27,780

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